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Items: 5

1.
HARDEROPORPHYRIA DUE TO HOMOZYGOSITY FOR COPROPORPHYRINOGEN OXIDASE MISSENSE MUTATION H327R
A Hasanoglu, M Balwani, ÇS Kasapkara, FS Ezgü, I Okur, L Tümer, A Çakmak, I Nazarenko, C Yu, S Clavero, DF Bishop, RJ Desnick
J Inherit Metab Dis. Author manuscript; available in PMC 2011 May 10.
Published in final edited form as: J Inherit Metab Dis. 2011 Feb; 34(1): 225–231. Published online 2010 Nov 20. doi: 10.1007/s10545-010-9237-9
PMCID:
PMC3091031
AbstractArticlePDF–651K
2.
Characterization of Mutations in the CPO Gene in British Patients Demonstrates Absence of Genotype-Phenotype Correlation and Identifies Relationship between Hereditary Coproporphyria and Harderoporphyria
Jérôme Lamoril, Hervé Puy, Sharon D. Whatley, Caroline Martin, Jacqueline R. Woolf, Vasco Da Silva, Jean-Charles Deybach, George H. Elder
Am J Hum Genet. 2001 May; 68(5): 1130–1138. Published online 2001 Apr 16. doi: 10.1086/320118
PMCID:
PMC1226094
AbstractArticlePDF–165K
3.
Harderoporphyria: a variant hereditary coproporphyria.
Y Nordmann, B Grandchamp, H de Verneuil, L Phung, B Cartigny, G Fontaine
J Clin Invest. 1983 Sep; 72(3): 1139–1149. doi: 10.1172/JCI111039
PMCID:
PMC1129282
SummaryPage BrowsePDF–1.3M
4.
Structural basis of hereditary coproporphyria
Dong-Sun Lee, Eva Flachsová, Michaela Bodnárová, Borries Demeler, Pavel Martásek, C. S. Raman
Proc Natl Acad Sci U S A. 2005 Oct 4; 102(40): 14232–14237. Published online 2005 Sep 21. doi: 10.1073/pnas.0506557102
PMCID:
PMC1224704
AbstractArticlePDF–1022K
5.
Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria
Kosei Hasegawa, Hiroyuki Tanaka, Miho Yamashita, Yousuke Higuchi, Takayuki Miyai, Junko Yoshimoto, Ayumi Okada, Norihiro Suzuki, Keiji Iwatsuki, Hirokazu Tsukahara
JIMD Rep. 2017; 37: 99–106. Published online 2017 Mar 28. doi: 10.1007/8904_2017_20
PMCID:
PMC5740044
AbstractArticlePDF–411K

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